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Details for NR5A1:c.251G>A, p.Arg84His

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
127262988	124500709

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.251G>A

PROTEIN CHANGE

p.Arg84His

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
4.114e-06	0.0	0.0	0.0	5.583e-05	0.0	0.0	0.0	0.0

ESP
AA	EA
0.0	0.0001238

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	4.061927	Disease causing

DBSNP ID

1 combination linked to NR5A1:c.251G>A, p.Arg84His

2 diseases linked to NR5A1:c.251G>A, p.Arg84His

46,XY disorder of sex development; 46,XY partial gonadal dysgenesis

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